Pyogenic arthritis, pyoderma gangrenosum and acne
Alternate names[edit | edit source]
PAPA syndrome; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; PAPAS; Familial recurrent arthritis; FRA
Definition[edit | edit source]
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
Epidemiology[edit | edit source]
To date, only 34 patients with PAPA syndrome have been reported worldwide, from five families (two in the USA, one in Italy, one in the Netherlands, and one in New Zealand).
Cause[edit | edit source]
- The gene responsible for the syndrome, the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene (previously known as the CD2 binding protein 1 (CD2BP1) gene), was cloned in 2002.
- Only two mutations account for the known cases.
- Recently, the PSTPIP1 protein has been demonstrated to bind pyrin/marenostrin (P/M), the protein encoded by the MEFV gene, mutations in which cause Familial Mediterranean Fever.
- PAPA-associated PSTPIP1 mutants exhibit increased binding to P/M.
Inheritance[edit | edit source]
PAPA syndrome is inherited in an autosomal dominant manner.
Signs and symptoms[edit | edit source]
- The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond.
- PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction.
- Synovial fluid is purulent with neutrophil accumulation, but cultures are invariably negative.
- Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously.
- Other less commonly associated features include adult-onset insulin-dependent diabetes mellitus, proteinuria, and abscess formation at the site of parenteral injections (pathergy).
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Acne
- Arthritis(Joint inflammation)
- Fatigue(Tired)
- Fever
- Limitation of joint mobility(Decreased joint mobility)
- Pustule(Pimple)
- Skin ulcer(Open skin sore)
30%-79% of people have these symptoms
- Arthralgia(Joint pain)
- Increased circulating antibody level
- Lymphadenopathy(Swollen lymph nodes)
5%-29% of people have these symptoms
- Crohn's disease
- Myositis(Muscle inflammation)
- Proteinuria(High urine protein levels)
- Type I diabetes mellitus(Type 1 diabetes)
1%-4% of people have these symptoms Allergy
- Cellulitis(Bacterial infection of skin)
- Colitis
- Cystic acne
- Elbow flexion contracture(Contractures of elbows)
- Elevated C-reactive protein level
- Hepatosplenomegaly(Enlarged liver and spleen)
- Knee flexion contracture
- Microcytic anemia
- Pyoderma gangrenosum
- Sterile arthritis
- Thrombocytosis(Increased number of platelets in blood)
Diagnosis[edit | edit source]
Clinical features along with the familial tendency may be enough to make a diagnosis. Genetic testing may also be used.
Differential diagnosis
Differential diagnosis for PAPA syndrome should include juvenile idiopathic arthritis and periodic fever.
Treatment[edit | edit source]
- Arthritis and skin lesions have sometimes been reported to be responsive to glucocorticoids.
- However, two alternative therapeutics have been suggested so far.
- In one report, the disease underwent rapid and sustained clinical remission after treatment with the tumor necrosis factor inhibitor, etanercept.
- Another recent paper described the effect of recombinant human interleukin (IL)-1 receptor antagonist (anakinra), which appeared to be an effective therapy to treat disease flares in PAPA syndrome.
NIH genetic and rare disease info[edit source]
Pyogenic arthritis, pyoderma gangrenosum and acne is a rare disease.
Pyogenic arthritis, pyoderma gangrenosum and acne Resources | ||
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